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Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh Tag for-review was removed from gene: GALNT2.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.79 GALNT2 Sarah Leigh Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.15 GALNT2 Arina Puzriakova Classified gene: GALNT2 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.15 GALNT2 Arina Puzriakova Added comment: Comment on list classification: The rating of this gene should be reviewed at the date of next GMS panel update - there is sufficient evidence to rate this gene Green.
Congenital disorders of glycosylation v2.15 GALNT2 Arina Puzriakova Gene: galnt2 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.14 GALNT2 Arina Puzriakova Tag for-review tag was added to gene: GALNT2.
Congenital disorders of glycosylation v2.14 GALNT2 Sarah Leigh Deleted their comment
Congenital disorders of glycosylation v2.14 GALNT2 Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least 5 unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Congenital disorders of glycosylation v2.10 GALNT2 Sarah Leigh Classified gene: GALNT2 as Green List (high evidence)
Congenital disorders of glycosylation v2.10 GALNT2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Congenital disorders of glycosylation v2.10 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v2.9 GALNT2 Sarah Leigh Classified gene: GALNT2 as Green List (high evidence)
Congenital disorders of glycosylation v2.9 GALNT2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 5 variants reported in at least unrelated cases, together with mouse and rat models (PMID 27508872;32293671).
Congenital disorders of glycosylation v2.9 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Green List (High Evidence).
Congenital disorders of glycosylation v2.8 GALNT2 Sarah Leigh Publications for gene: GALNT2 were set to 32293671
Congenital disorders of glycosylation v2.7 GALNT2 Sarah Leigh Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIt 618885
Congenital disorders of glycosylation v2.6 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Congenital disorders of glycosylation. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
gene: GALNT2 was marked as current diagnostic
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. Suggest adding to ID and epilepsy panels.
Sources: Literature
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh marked B3GALNT2 as ready
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh commented on B3GALNT2
Congenital disorders of glycosylation B3GALNT2 Sarah Leigh classified B3GALNT2 as green
Congenital disorders of glycosylation B3GALNT2 Daniel Ungar added B3GALNT2 to panel
Congenital disorders of glycosylation B3GALNT2 Daniel Ungar reviewed B3GALNT2